ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827476788
Gene: SCN11A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000795168
RCV002345751
ClinVar Variation:
641838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336182.1:p.Gly1695Asp
CA2321402
NM_001349253.2:c.5084G>A