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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
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Canonical Allele Identifier:
CA1149396870
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.2036378_2036380delinsCCA , CM000663.2:g.2036378_2036380delinsCCA
GRCh38
NC_000001.10:g.1967817_1967819delinsCCA , CM000663.1:g.1967817_1967819delinsCCA
GRCh37
NC_000001.9:g.1957677_1957679delinsCCA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_946823.1:n.773+55_773+57delinsTGG
XR_001737845.2:n.831_833delinsTGG
XR_946823.3:n.776+55_776+57delinsTGG
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