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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:
CA2397842995
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.23548569_23548572delinsTCTC , CM000684.2:g.23548569_23548572delinsTCTC
GRCh38
NC_000022.10:g.23890756_23890759delinsTCTC , CM000684.1:g.23890756_23890759delinsTCTC
GRCh37
NC_000022.9:g.22220756_22220759delinsTCTC
NCBI36
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