ClinGen Allele Registry
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Canonical Allele Identifier:
PA128868
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000010003
RCV000022946
RCV000058604
RCV000114992
RCV000183045
RCV000617238
RCV000656563
RCV002222347
RCV004532321
ClinVar Variation:
9401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Asp1274Asn
CA017530
NM_000335.5:c.3820G>A