ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825940728
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003655192
RCV003999582
ClinVar Variation:
571359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.His557Tyr
CA058468
NM_001160160.2:c.1669C>T