ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226239
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98671
ClinVar RCV Id:
RCV000084975
RCV000626661
RCV001250327
RCV001250326
RCV001074377
RCV001378482
RCV001270171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Asp157Asn
CA226238
NM_000322.5:c.469G>A