ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580523132
Gene: SAMD11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689699.3:p.Ala40Val
CA502427
NM_152486.4:c.119C>T