Allele Registry

Canonical Allele Identifier: PA645416439

Gene: HCFC1 HGNC NCBI

ClinVar RCV:

RCV000482310

RCV000766506

RCV002526976

ClinVar Variation:

424226

HGVS (amino-acid)	Matching Registered Transcripts
NP_005325.2:p.Thr1540Ile	CA10556937 NM_005334.3:c.4619C>T