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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:
CA2470804269
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.16849689_16849692delinsCTTG , CM000686.2:g.16849689_16849692delinsCTTG
GRCh38
NC_000024.9:g.18961569_18961572delinsCTTG , CM000686.1:g.18961569_18961572delinsCTTG
GRCh37
NC_000024.8:g.17470963_17470966delinsCTTG
NCBI36
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