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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:
PA242175
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195656
ClinVar RCV Id:
RCV000712729
RCV001089444
RCV004539634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Val878Met
CA242168
NM_000445.4:c.2632G>A