ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303191
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
187764
ClinVar RCV:
RCV000180832
ClinVar Variation:
189879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ala1255Pro
CA303188
NM_001165963.4:c.3763G>C