Allele Registry

Canonical Allele Identifier: PA645469577

Gene: HGD HGNC NCBI

ClinVar RCV:

RCV000252512

RCV000306096

ClinVar Variation:

255481

HGVS (amino-acid)	Matching Registered Transcripts
NP_000178.2:p.Gln80His	CA2560297 NM_000187.4:c.240A>T CA354081301 NM_000187.4:c.240A>C