ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102310
Gene: HGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
556003
ClinVar RCV Id:
RCV000671938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Arg187Gly
CA354076811
NM_000187.4:c.559C>G