Allele Registry

Canonical Allele Identifier: PA144905

Gene: HCFC1 HGNC NCBI

ClinVar RCV:

RCV000057508

RCV002513745

ClinVar Variation:

66986

HGVS (amino-acid)	Matching Registered Transcripts
NP_005325.2:p.Ala73Thr	CA144904 NM_005334.3:c.217G>A