ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827779297
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180869
RCV001071061
ClinVar Variation:
189917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Met773Val
CA303300
NM_001353955.2:c.2317A>G