ClinGen Allele Registry
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Canonical Allele Identifier:
PA122929
Gene: PRPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
28204
ClinVar RCV:
RCV000014051
RCV000084987
RCV000149464
RCV000149466
RCV001075516
RCV001250378
RCV001378481
RCV001530305
ClinVar Variation:
13165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Leu185Pro
CA122928
NM_000322.5:c.554T>C