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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:
PA243001
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196148
ClinVar RCV Id:
RCV000176898
RCV000555351
RCV001721113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg1228Gly
CA243000
NM_201381.3:c.3682C>G