ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453752
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
324511
ClinVar RCV Id:
RCV000294885
RCV000300004
RCV000349019
RCV000389100
RCV000407395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ala1631Thr
CA8708881
NM_000334.4:c.4891G>A