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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:
CA949956427
Gene:
Linked Data
dbSNP Id:
rs1872958026
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.84170218del , CM000674.2:g.84170218del
GRCh38
NC_000012.11:g.84563997del , CM000674.1:g.84563997del
GRCh37
NC_000012.10:g.83088128del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749234.1:n.127+16251del
XR_001749235.1:n.127+16251del
Search 100 bp 5'
Search 100 bp 3'