Allele Registry

Canonical Allele Identifier: PA231159

Gene: HCFC1 HGNC NCBI

ClinVar Allele:

134666

ClinVar RCV:

RCV000117215

RCV000599889

RCV001520721

RCV003952568

ClinVar Variation:

129220

HGVS (amino-acid)	Matching Registered Transcripts
NP_005325.2:p.Asn1097Thr	CA231158 NM_005334.3:c.3290A>C