ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827787321
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195131
ClinVar RCV Id:
RCV000474474
RCV000764287
RCV000724565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.His127Asp
CA302801
NM_001353960.2:c.379C>G