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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:
CA2573051921
Gene: OTOF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1185579
ClinVar RCV Id:
RCV001730846
dbSNP Id:
rs2148060407
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.26483462del , CM000664.2:g.26483462del
GRCh38
NC_000002.11:g.26706330del , CM000664.1:g.26706330del
GRCh37
NC_000002.10:g.26559834del
NCBI36
NG_009937.1:g.80238del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272371.7:c.1392+1del
ENST00000272371.6:c.1392+1del
ENST00000403946.7:c.1392+1del
NM_001287489.1:c.1392+1del
NM_194248.2:c.1392+1del
XM_005264644.2:c.1437+1del
XM_011533185.1:c.1437+1del
XM_017005338.1:c.1392+1del
NM_001287489.2:c.1392+1del
NM_194248.3:c.1392+1del
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