ClinGen Allele Registry
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Canonical Allele Identifier:
PA143152
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Phe2003Leu
CA019578
NM_000335.5:c.6007T>C
CA065185
NM_000335.5:c.6009C>G
CA352139097
NM_000335.5:c.6009C>A