ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453632
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
324520
ClinVar RCV Id:
RCV000279601
RCV000281184
RCV000338105
RCV000371720
RCV000702745
RCV000713105
RCV002523000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Thr1351Met
CA8709062
NM_000334.4:c.4052C>T