ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828471973
Gene: SLC8A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001359192.1:p.Leu964Pro
CA346612891
NM_001372263.2:c.2891T>C