ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827753317
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000798720
RCV003141788
ClinVar Variation:
644737
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Gly1371Cys
CA349050420
NM_001353948.2:c.4111G>T