ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307470
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201485
ClinVar RCV Id:
RCV000183018
RCV000320680
RCV000345371
RCV000381271
RCV000265516
RCV000285751
RCV000374045
RCV001094864
RCV001842910
RCV002433810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg986Trp
CA016660
NM_198056.3:c.2956C>T