ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580327631
Gene: HP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2345586
ClinVar RCV Id:
RCV004182001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005134.1:p.Arg277His
CA8159198
NM_005143.5:c.830G>A