ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828050148
Gene: SPTB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342365.1:p.Ala1334Val
CA7230438
NM_001355436.2:c.4001C>T