Canonical Allele Identifier: PA645469661
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 342739
ClinVar RCV Id: RCV000267668
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000178.2:p.Met343Leu
CA2559978
NM_000187.4:c.1027A>C
CA354072991
NM_000187.4:c.1027A>T