Canonical Allele Identifier: PA144901
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 66984
ClinVar RCV Id: RCV000057506 RCV002513743
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Ala115Val
CA144900
NM_005334.3:c.344C>T