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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:
CA1749618110
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.145144354_145144355delinsTA , CM000669.2:g.145144354_145144355delinsTA
GRCh38
NC_000007.13:g.144841447_144841448delinsTA , CM000669.1:g.144841447_144841448delinsTA
GRCh37
NC_000007.12:g.144472380_144472381delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_928090.1:n.1968-12581_1968-12580delinsTA
XR_928090.2:n.4143-12581_4143-12580delinsTA
Search 100 bp 5'
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