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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:
PA2826446486
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1464069
ClinVar RCV Id:
RCV001956791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Leu443Val
CA344031355
NM_001257965.2:c.1327C>G