ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916065445
Gene: PC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487339
ClinVar RCV Id:
RCV000576201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071504.2:p.Val890Phe
CA381492401
NM_022172.3:c.2668G>T