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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:
CA711703766
Gene: OCA2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1343785630
gnomAD v3:
15-27752177-TC-T
gnomAD v4:
15-27752177-TC-T
MyVariant Identifiers:
chr15:g.27997324del (hg19)
chr15:g.27752178del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.27752178del , CM000677.2:g.27752178del
GRCh38
NC_000015.9:g.27997324del , CM000677.1:g.27997324del
GRCh37
NC_000015.8:g.25670919del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017022258.1:c.2457-32850del
XP_016877747.1:n.2457-32850del
XM_017022264.1:c.2292-32850del
XP_016877753.1:n.2292-32850del
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