ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827611215
Gene: SLC8A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338422.1:p.Val784Ile
CA1627254
NM_001351493.2:c.2350G>A