Canonical Allele Identifier: PA2828939116
Gene: HFE HGNC NCBI
ClinVar Allele:
15057
ClinVar RCV:
RCV000000035
ClinVar Variation:
18
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001371093.1:p.Arg330Met
CA280947
NM_001384164.1:c.989G>T