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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:
CA1839246948
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.22124524_22124528delinsCTCTT , CM000671.2:g.22124524_22124528delinsCTCTT
GRCh38
NC_000009.11:g.22124523_22124527delinsCTCTT , CM000671.1:g.22124523_22124527delinsCTCTT
GRCh37
NC_000009.10:g.22114523_22114527delinsCTCTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'