ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285191
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059520
RCV003233101
RCV003588572
ClinVar Variation:
68641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg1637Cys
CA285189
NM_006920.6:c.4909C>T