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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:
PA104489
Gene: OCRL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68712
ClinVar RCV Id:
RCV000059593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000267.2:p.Arg493Trp
CA345320
NM_000276.4:c.1477C>T