ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3069872243
Gene: ADD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001110.2:p.Ser586Phe
CA91408921
NM_001119.5:c.1757C>T