ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741846844
Gene: HPGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2689223
ClinVar RCV Id:
RCV003487909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243236.1:p.Val55Met
CA3142222
NM_001256307.2:c.163G>A