ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942928
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Phe1971Leu
CA019578
NM_001160160.2:c.5911T>C
CA065185
NM_001160160.2:c.5913C>G
CA352139097
NM_001160160.2:c.5913C>A