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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2573055418
Gene: ANOS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10009
ClinVar RCV Id:
RCV000010692
dbSNP Id:
rs2146819139
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.8587797_8587981del , CM000685.2:g.8587797_8587981del
GRCh38
NC_000023.10:g.8555838_8556022del , CM000685.1:g.8555838_8556022del
GRCh37
NC_000023.9:g.8515838_8516022del
NCBI36
NG_007088.1:g.149211_149395del
NG_007088.2:g.149211_149395del
Transcript Alleles
HGVS
Amino-acid change
ENST00000262648.8:c.544_726+2del
ENST00000262648.7:c.544_726+2del
ENST00000619786.1:c.541_723+2del
NM_000216.2:c.544_726+2del
XM_005274501.3:c.544_726+2del
NM_000216.3:c.544_726+2del
XM_005274501.4:c.544_726+2del
NM_000216.4:c.544_726+2del
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