ClinGen Allele Registry
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Canonical Allele Identifier:
PA123382
Gene: PRPH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13707
ClinVar RCV Id:
RCV000014706
RCV000057167
RCV000523206
RCV003964802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006253.2:p.Asp141Tyr
CA123381
NM_006262.4:c.421G>T