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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:
PA2826876247
Gene: AIP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41204
ClinVar RCV Id:
RCV000034103
RCV001237723
RCV004018730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001289889.1:p.Ile257Val
CA344179
NM_001302960.2:c.769A>G