ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922183
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67712
ClinVar RCV Id:
RCV000058479
RCV000151790
RCV000148842
RCV000157484
RCV000202895
RCV000618520
RCV000987217
RCV001149798
RCV001149799
RCV001149800
RCV001149801
RCV001149802
RCV001842310
RCV003486632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Gln692Lys
CA015830
NM_001354701.2:c.2074C>A