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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:
CA1753254286
Gene:
Linked Data
dbSNP Id:
rs2098041693
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.152677111del , CM000669.2:g.152677111del
GRCh38
NC_000007.13:g.152374196del , CM000669.1:g.152374196del
GRCh37
NC_000007.12:g.152005129del
NCBI36
NG_027988.1:g.4055del
NG_027988.2:g.4055del
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