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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:
CA1657688832
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.117450095_117450098delinsTTCA , CM000668.2:g.117450095_117450098delinsTTCA
GRCh38
NC_000006.11:g.117771258_117771261delinsTTCA , CM000668.1:g.117771258_117771261delinsTTCA
GRCh37
NC_000006.10:g.117877951_117877954delinsTTCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000467125.1:c.547+116756_547+116759delinsTGAA
ENSP00000487717.1:n.547+116756_547+116759delinsTGAA
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