ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124023
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000015583
RCV000057440
RCV002286398
ClinVar Variation:
14492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005563.1:p.His222Tyr
CA018412
NM_005572.4:c.664C>T