ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110378
Gene: SAMD9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001180236.1:p.Lys1495Glu
NM_001193307.1:c.4483A>G