ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231304
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1003633
ClinVar RCV Id:
RCV001300209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Met1390Val
CA400616577
NM_000334.4:c.4168A>G