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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:
PA2826642554
Gene: ITGB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180683
ClinVar RCV Id:
RCV000157638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269282.1:p.Ala143Thr
CA214550
NM_001282353.2:c.427G>A