ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827021944
Gene:
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305786.1:p.Tyr119His
CA364146625
NM_001318857.2:c.355T>C