ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307987
Gene: SCN5A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_932173.1:p.Glu48Lys
NM_198056.3:c.142G>A