Allele Registry

Canonical Allele Identifier: PA645469573

Gene: HGD HGNC NCBI

ClinVar Allele:

431010

ClinVar RCV:

RCV000503877

RCV002287418

ClinVar Variation:

437464

HGVS (amino-acid)	Matching Registered Transcripts
NP_000178.2:p.Arg63Ser	CA354081558 NM_000187.4:c.189G>T CA354081559 NM_000187.4:c.189G>C