ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825940833
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345126
ClinVar RCV Id:
RCV000262047
RCV000277415
RCV000312527
RCV000315917
RCV000319498
RCV000354418
RCV000369639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Leu624Ile
CA10616342
NM_001160160.2:c.1870C>A