ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093064
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143200
ClinVar RCV Id:
RCV000132736
RCV000395392
RCV000547264
RCV000995863
RCV001127055
RCV001127056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg1129Gln
CA345719
NM_000334.4:c.3386G>A