ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120360
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Pro1297Leu
CA017599
NM_000335.5:c.3890C>T