ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108443
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67988
ClinVar RCV Id:
RCV000058775
RCV000148840
RCV000154835
RCV000474591
RCV000621224
RCV000987199
RCV001144221
RCV001144218
RCV001144219
RCV001144220
RCV001842385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ser1787Asn
CA019158
NM_198056.3:c.5360G>A