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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:
CA1864935260
Gene: BARX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1829128556
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.93953784_93953786del , CM000671.2:g.93953784_93953786del
GRCh38
NC_000009.11:g.96716066_96716068del , CM000671.1:g.96716066_96716068del
GRCh37
NC_000009.10:g.95755887_95755889del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000253968.11:c.224-596_224-594del
MANE Select
ENSP00000253968.5:n.224-596_224-594del
ENST00000253968.10:c.224-596_224-594del
ENSP00000253968.5:n.224-596_224-594del
NM_021570.3:c.224-596_224-594del
NP_067545.3:n.224-596_224-594del
NM_021570.4:c.224-596_224-594del
MANE Select
NP_067545.3:n.224-596_224-594del
Search 100 bp 5'
Search 100 bp 3'