ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174586
Gene: SAFB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055464.1:p.Ser456Leu
CA174585
NM_014649.3:c.1367C>T