ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827610873
Gene: SLC8A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338415.1:p.Val763Ile
CA1627254
NM_001351486.2:c.2287G>A