ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826011434
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059400
RCV000188829
RCV000550639
RCV001197275
ClinVar Variation:
68528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Arg101Gln
CA273119
NM_001165964.3:c.302G>A