Canonical Allele Identifier: PA2580107703
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 2158292
ClinVar RCV Id: RCV003069694

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000178.2:p.Pro388Ser
CA2559960
NM_000187.4:c.1162C>T