ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100196
Gene: HP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005134.1:p.Ile247Thr
CA126032
NM_005143.5:c.740T>C