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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
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Canonical Allele Identifier:
CA1595159041
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.159580695_159580696delinsCT , CM000667.2:g.159580695_159580696delinsCT
GRCh38
NC_000005.9:g.159007703_159007704delinsCT , CM000667.1:g.159007703_159007704delinsCT
GRCh37
NC_000005.8:g.158940281_158940282delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_941139.1:n.2075+260_2075+261delinsCT
XR_941140.1:n.2075+260_2075+261delinsCT
XR_941141.1:n.570+260_570+261delinsCT
XR_941139.2:n.2229+260_2229+261delinsCT
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