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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:
PA2828622000
Gene: PROC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
627215
ClinVar RCV Id:
RCV000852001
RCV000984956
RCV002221155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362537.1:p.Ala369Val
CA55351245
NM_001375608.1:c.1106C>T