Allele Registry

Canonical Allele Identifier: PA144903

Gene: HCFC1 HGNC NCBI

ClinVar RCV:

RCV000057507

RCV000224133

RCV000224484

RCV001199845

RCV002513744

ClinVar Variation:

66985

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