Canonical Allele Identifier: PA144903
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 66985
ClinVar RCV Id: RCV000057507 RCV000224484 RCV000224133 RCV001199845 RCV002513744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Ala73Val
CA144902
NM_005334.3:c.218C>T