ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827921997
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67682
ClinVar RCV Id:
RCV000058446
RCV000148854
RCV000456073
RCV000987224
RCV003486629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ala572Ser
CA015256
NM_001354701.2:c.1714G>T