ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741974567
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2949506
ClinVar RCV Id:
RCV003804672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Asp1554Tyr
CA349036405
NM_021007.3:c.4660G>T