ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249700
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009984
RCV000058427
ClinVar Variation:
9386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Gly514Cys
CA014960
NM_000335.5:c.1540G>T