ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916065383
Gene: PC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
17133
ClinVar RCV:
RCV000002175
ClinVar Variation:
2094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071504.2:p.Ala610Thr
CA339936
NM_022172.3:c.1828G>A