ClinGen Allele Registry
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Canonical Allele Identifier:
PA645436682
Gene: SPTBN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008877.1:p.Ile157Thr
CA10576252
NM_006946.3:c.470T>C