ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826456339
Gene: SP6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245177.1:p.Ala273Met
CA2499224679
NM_001258248.2:c.817_818delinsAT