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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:
CA1839246934
Gene:
Linked Data
dbSNP Id:
rs1817989077
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.22124502_22124503dup , CM000671.2:g.22124502_22124503dup
GRCh38
NC_000009.11:g.22124501_22124502dup , CM000671.1:g.22124501_22124502dup
GRCh37
NC_000009.10:g.22114501_22114502dup
NCBI36
Search 100 bp 5'
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