ClinGen Allele Registry
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Canonical Allele Identifier:
PA093124
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000132735
RCV000654671
RCV000763022
RCV001508991
RCV004532585
ClinVar Variation:
143199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg222Trp
CA345718
NM_000334.4:c.664C>T