ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828471735
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
365811
ClinVar RCV:
RCV000438096
RCV001059949
RCV003483613
ClinVar Variation:
390480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Asp997Gly
CA16603912
NM_001371246.1:c.2990A>G