ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827749595
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68575
ClinVar RCV Id:
RCV000059451
RCV000522680
RCV000636440
RCV004019070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Asp194Asn
CA285033
NM_001353948.2:c.580G>A