ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357175
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
69406
ClinVar RCV Id:
RCV000209885
RCV000494091
RCV000702992
RCV004528267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ser1505Leu
CA357173
NM_006920.6:c.4514C>T