ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499304246
Gene: SP6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954871.1:p.Ala273Met
CA2499224679
NM_199262.3:c.817_818delinsAT