ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104070
Gene: OCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001005
RCV000251919
RCV000487934
RCV003891424
ClinVar Variation:
954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Ala481Thr
CA251633
NM_000275.3:c.1441G>A