ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741815332
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2793759
ClinVar RCV Id:
RCV003616109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Met1213Arg
CA400617853
NM_000334.4:c.3638T>G