ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126031
Gene: HP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005134.1:p.Lys72Glu
NM_005143.5:c.214A>G