ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826857348
Gene: OCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001007
RCV000481371
RCV000755092
RCV000762938
RCV003460401
ClinVar Variation:
956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287913.1:p.Pro719Leu
CA251635
NM_001300984.2:c.2156C>T