ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828180690
Gene: SCN9A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000118298
RCV000222414
RCV000313714
RCV000366834
RCV000391228
RCV000391236
RCV000655986
RCV001080160
RCV002433611
ClinVar Variation:
130260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352465.1:p.Tyr1001Cys
CA231497
NM_001365536.1:c.3002A>G