ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827772377
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68528
ClinVar RCV Id:
RCV000059400
RCV000188829
RCV000550639
RCV001197275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Arg101Gln
CA273119
NM_001353952.2:c.302G>A