ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107212
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67842
ClinVar RCV Id:
RCV000058621
RCV000183053
RCV000509258
RCV000589022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ala1330Thr
CA017699
NM_198056.3:c.3988G>A