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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:
PA130112
Gene: ODAPH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37219
ClinVar RCV Id:
RCV000030794
RCV003407374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193910.1:p.Gly121Asp
CA130111
NM_001206981.2:c.362G>A