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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:
CA917848988
Gene:
Linked Data
dbSNP Id:
rs1562167830
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.121427357_121427358del , CM000668.2:g.121427357_121427358del
GRCh38
NC_000006.11:g.121748503_121748504del , CM000668.1:g.121748503_121748504del
GRCh37
NC_000006.10:g.121790202_121790203del
NCBI36
Search 100 bp 5'
Search 100 bp 3'