ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107258
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68034
ClinVar RCV Id:
RCV000058837
RCV000454727
RCV001144461
RCV001144462
RCV000987236
RCV001144463
RCV001146371
RCV001146370
RCV001705715
RCV001842408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ala226Val
CA019724
NM_198056.3:c.677C>T