ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA275424
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198707
ClinVar RCV Id:
RCV000180125
RCV000486337
RCV003398903
RCV003468873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Asn273_Trp274delinsLysVal
CA275423
NM_000275.3:c.819_822delinsGGTC