ClinGen Allele Registry
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Canonical Allele Identifier:
PA254742
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009962
RCV000183165
RCV002336463
RCV003318368
ClinVar Variation:
201571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Gln1506_Pro1508del
CA018388
NM_000335.5:c.4516_4524del