ClinGen Allele Registry
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Canonical Allele Identifier:
PA104343
Gene: OCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000176150
RCV000192656
RCV000724171
RCV003407649
RCV003468858
ClinVar Variation:
195557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Ser736Leu
CA242025
NM_000275.3:c.2207C>T