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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:
PA2830330071
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3229276
ClinVar RCV Id:
RCV004524854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733822.1:p.Tyr596Asn
CA342827524
NM_170708.4:c.1786T>A