ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827476280
Gene: SCN11A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144934
RCV000282888
RCV001082548
RCV002453464
ClinVar Variation:
157599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336182.1:p.Leu1158Pro
CA171012
NM_001349253.2:c.3473T>C