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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:
CA1619549514
Gene:
Linked Data
dbSNP Id:
rs1761718457
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32427126_32427139del , CM000668.2:g.32427126_32427139del
GRCh38
NC_000006.11:g.32394903_32394916del , CM000668.1:g.32394903_32394916del
GRCh37
NC_000006.10:g.32502881_32502894del
NCBI36
Search 100 bp 5'
Search 100 bp 3'