ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829680052
Gene: SPTBN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008877.2:p.Ala2077Val
CA6128028
NM_006946.4:c.6230C>T