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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:
CA915950020
Gene:
Linked Data
ClinVar Variation Id:
664769
ClinVar RCV Id:
RCV000822935
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43044295_43045802del , CM000679.2:g.43044295_43045802del
GRCh38
NC_000017.10:g.41196312_41197819del , CM000679.1:g.41196312_41197819del
GRCh37
NC_000017.9:g.38449838_38451345del
NCBI36
NG_005905.2:g.172183_173690del , LRG_292:g.172183_173690del
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