Allele Registry

Canonical Allele Identifier: PA102299

Gene: HGD HGNC NCBI

ClinVar Allele:

186672

ClinVar RCV:

RCV000169217

ClinVar Variation:

188865

HGVS (amino-acid)	Matching Registered Transcripts
NP_000178.2:p.Ala122Val	CA277986 NM_000187.4:c.365C>T