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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:
CA2176975216
Gene:
Linked Data
dbSNP Id:
rs1796202239
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.51679963del , CM000677.2:g.51679963del
GRCh38
NC_000015.9:g.51972160del , CM000677.1:g.51972160del
GRCh37
NC_000015.8:g.49759452del
NCBI36
NG_013214.1:g.3611del
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