ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102299
Gene: HGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188865
ClinVar RCV Id:
RCV000169217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Ala122Val
CA277986
NM_000187.4:c.365C>T