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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826660019
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41234
ClinVar RCV Id:
RCV000034134
RCV000190400
RCV001178806
RCV001781340
RCV001384595
RCV003996150
RCV001814022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269555.1:p.Arg225Gln
CA018437
NM_001282626.2:c.674G>A