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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:
PA2827665498
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218253
ClinVar RCV Id:
RCV000236842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339537.1:p.Cys614Arg
CA7033896
NM_001352608.2:c.1840T>C