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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:
CA1140774448
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.45328940_45328944delinsCCCCC , CM000663.2:g.45328940_45328944delinsCCCCC
GRCh38
NC_000001.10:g.45794612_45794616delinsCCCCC , CM000663.1:g.45794612_45794616delinsCCCCC
GRCh37
NC_000001.9:g.45567199_45567203delinsCCCCC
NCBI36
NG_008189.1:g.16527_16531delinsGGGGG , LRG_220:g.16527_16531delinsGGGGG
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