Canonical Allele Identifier: PA645469573
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 437464
ClinVar RCV Id: RCV000503877 RCV002287418
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Amino-acid Alleles

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