Canonical Allele Identifier: PA645416487
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418244
ClinVar RCV Id: RCV000486458

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Trp1999Cys
CA16621240
NM_005334.3:c.5997G>T
CA415102165
NM_005334.3:c.5997G>C