Canonical Allele Identifier: PA645469607
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 342745
ClinVar RCV Id: RCV000293214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000178.2:p.Ser189Arg
CA2560150
NM_000187.4:c.567C>G
CA354076783
NM_000187.4:c.567C>A
CA354076789
NM_000187.4:c.565A>C