ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307722
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000183088
RCV001144344
RCV001144345
RCV001146240
RCV001146241
RCV001146242
RCV001146243
RCV003996814
ClinVar Variation:
201521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Val1623Ile
CA018686
NM_000335.5:c.4867G>A