ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453750
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
324512
ClinVar RCV Id:
RCV000265921
RCV000305878
RCV000336274
RCV000360583
RCV000402814
RCV000654673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Pro1629Leu
CA8708885
NM_000334.4:c.4886C>T