ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891861012
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571359
ClinVar RCV Id:
RCV003655192
RCV003999582
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.His557Tyr
CA058468
NM_198056.3:c.1669C>T