ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108587
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058426
RCV000144029
RCV000588264
RCV002498340
RCV003996525
ClinVar Variation:
67665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Thr512Ile
CA014930
NM_198056.3:c.1535C>T