ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645407705
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
362319
ClinVar RCV:
RCV000416998
ClinVar Variation:
375505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Met1323Val
CA16044308
NM_021007.3:c.3967A>G