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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:
CA2761911335
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558329_62558330del , CM000666.2:g.62558329_62558330del
GRCh38
NC_000004.11:g.63424047_63424048del , CM000666.1:g.63424047_63424048del
GRCh37
NC_000004.10:g.63106642_63106643del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_938814.1:n.161-5515_161-5514del
Search 100 bp 5'
Search 100 bp 3'