ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499303171
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001842080
ClinVar Variation:
1171341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg27Leu
CA056875
NM_198056.3:c.80G>T