Canonical Allele Identifier: PA226286
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13164
ClinVar RCV Id: RCV000014050 RCV000085007 RCV001003142 RCV001250376 RCV001075781 RCV001063368
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Pro216Leu
CA226285
NM_000322.5:c.647C>T