ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453403
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000493097
RCV000700005
RCV002506196
ClinVar Variation:
430131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Asn507Ser
CA8709823
NM_000334.4:c.1520A>G