ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573252503
Gene: SPTBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1424510
ClinVar RCV Id:
RCV001921716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008877.2:p.Arg1507Gln
CA6128547
NM_006946.4:c.4520G>A