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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:
CA2772297245
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98102452_98102453del , CM000668.2:g.98102452_98102453del
GRCh38
NC_000006.11:g.98550328_98550329del , CM000668.1:g.98550328_98550329del
GRCh37
NC_000006.10:g.98657049_98657050del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245563.2:n.456+3182_456+3183del
XR_942809.1:n.456+3182_456+3183del
Search 100 bp 5'
Search 100 bp 3'