ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143140
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48313
ClinVar RCV Id:
RCV000041634
RCV000058813
RCV000620208
RCV001145796
RCV001145797
RCV001145798
RCV001145799
RCV001145801
RCV001145800
RCV001841616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Pro1961Leu
CA019523
NM_000335.5:c.5882C>T