ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139761166
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
950649
ClinVar RCV Id:
RCV001841188
RCV003656588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ala1529Asp
CA352144070
NM_198056.3:c.4586C>A