Canonical Allele Identifier: PA2741921062
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2504492
ClinVar RCV Id: RCV003231953 RCV004285642
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Asp1227Glu
CA415119874
NM_005334.3:c.3681C>G
CA415119875
NM_005334.3:c.3681C>A