ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826381246
Gene: HPGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7917
ClinVar RCV Id:
RCV000008379
RCV000144084
RCV001781205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243234.1:p.Ala140Pro
CA119153
NM_001256305.2:c.418G>C