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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:
PA218216
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66888
ClinVar RCV Id:
RCV000015599
RCV000057387
RCV000622546
RCV000502816
RCV000755005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005563.1:p.Thr10Ile
CA017867
NM_005572.4:c.29C>T