ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830327214
Gene: LMNA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1002177
ClinVar RCV:
RCV001317047
ClinVar Variation:
1017837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Glu330Lys
CA342820135
NM_170707.4:c.988G>A