ClinGen Allele Registry
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Canonical Allele Identifier:
PA658809974
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_932173.1:p.Asp2003Asn
CA065167
NM_198056.3:c.6007G>A