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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:
CA1757932376
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.2180505_2180509delinsCAATG , CM000670.2:g.2180505_2180509delinsCAATG
GRCh38
NC_000008.9:g.2116115_2116119delinsCAATG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_941356.1:n.112-12430_112-12426delinsCAATG
XR_941355.2:n.133-3519_133-3515delinsCAATG
XR_941356.2:n.133-12430_133-12426delinsCAATG
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