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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:
CA1715429971
Gene:
Linked Data
dbSNP Id:
rs1788209980
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147104del , CM000669.2:g.69147104del
GRCh38
NC_000007.13:g.68612091del , CM000669.1:g.68612091del
GRCh37
NC_000007.12:g.68250027del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-974del
Search 100 bp 5'
Search 100 bp 3'