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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:
PA2826660194
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66952
ClinVar RCV Id:
RCV000057481
RCV000146262
RCV001234965
RCV003227631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269555.1:p.Asp300Asn
CA018826
NM_001282626.2:c.898G>A