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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:
CA2752632523
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.149290744del , CM000664.2:g.149290744del
GRCh38
NC_000002.11:g.150147258del , CM000664.1:g.150147258del
GRCh37
NC_000002.10:g.149855504del
NCBI36
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