ClinGen Allele Registry
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Canonical Allele Identifier:
PA185989
Gene: PRPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000084969
RCV000161145
RCV001051727
RCV001074856
RCV001250306
RCV001250316
RCV001250317
RCV001353037
RCV001723663
RCV002508140
ClinVar Variation:
98666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Tyr141Cys
CA185988
NM_000322.5:c.422A>G