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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:
CA2719329983
Gene:
Linked Data
dbSNP Id:
rs2118170703
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.29784013_29784017del , CM000671.2:g.29784013_29784017del
GRCh38
NC_000009.11:g.29784011_29784015del , CM000671.1:g.29784011_29784015del
GRCh37
NC_000009.10:g.29774011_29774015del
NCBI36
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