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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:
PA2828981506
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265062
ClinVar RCV Id:
RCV000255984
RCV001004928
RCV004556055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Arg1193Cys
CA3238910
NM_001384732.1:c.3577C>T