ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA284720
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_733821.1:p.Gln246Ter
NM_170707.4:c.736C>T