ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645379854
Gene: OCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000415383
RCV001116802
RCV001574644
RCV003155175
RCV003401404
RCV003470362
ClinVar Variation:
373910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Tyr342Cys
CA7439258
NM_000275.3:c.1025A>G