ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826104493
Gene: HPD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
307482
ClinVar RCV Id:
RCV000301673
RCV000358858
RCV002522222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165464.1:p.Arg240His
CA6839503
NM_001171993.2:c.719G>A