ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573089323
Gene: SPTBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450038
ClinVar RCV Id:
RCV000520415
RCV001027673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008877.2:p.Met436Thr
CA381481186
NM_006946.4:c.1307T>C