Canonical Allele Identifier: PA102358
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 3167
ClinVar RCV Id: RCV000003317
ClinVar Variation Id: 2627717
ClinVar RCV Id: RCV003389011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000178.2:p.Arg330Ser
CA277916
NM_000187.4:c.990G>T
CA354073338
NM_000187.4:c.990G>C