ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825496500
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009983
RCV000058705
RCV000183084
RCV001329632
RCV004528098
ClinVar Variation:
9385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Asp1577Asn
CA018551
NM_001099405.2:c.4729G>A