ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830327283
Gene: LMNA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002295209
ClinVar Variation:
1722182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Ala350Val
CA342820270
NM_170707.4:c.1049C>T