ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825132920
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
519349
ClinVar RCV:
RCV001329633
RCV001815007
RCV002358799
RCV002492986
RCV002508242
RCV004003854
ClinVar Variation:
532063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Asp2002Asn
CA065167
NM_000335.5:c.6004G>A