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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:
PA104218
Gene: LRP5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6282
ClinVar RCV Id:
RCV000006660
RCV000006661
RCV000383760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002326.2:p.Ala242Thr
CA118097
NM_002335.4:c.724G>A