Canonical Allele Identifier: PA1139679979
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 967274
ClinVar RCV Id: RCV001242145
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000178.2:p.Arg53Trp
CA2560336
NM_000187.4:c.157C>T