ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307133
Gene: SCN5A
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_932173.1:p.Ala185Thr
NM_198056.3:c.553G>A