ClinGen Allele Registry
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Canonical Allele Identifier:
PA143153
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Phe2004Leu
CA019578
NM_001099404.2:c.6010T>C
CA065185
NM_001099404.2:c.6012C>G
CA352139097
NM_001099404.2:c.6012C>A