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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:
CA658820845
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225256_5225874delinsAAGTAG , CM000673.2:g.5225256_5225874delinsAAGTAG
GRCh38
NC_000011.9:g.5246486_5247104delinsAAGTAG , CM000673.1:g.5246486_5247104delinsAAGTAG
GRCh37
NC_000011.8:g.5203062_5203680delinsAAGTAG
NCBI36
NG_000007.3:g.71742_72360delinsCTACTT
NG_059281.1:g.6198_6816delinsCTACTT
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