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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:
CA2580075482
Gene:
Linked Data
ClinVar Variation Id:
1748977
ClinVar RCV Id:
RCV002347377
RCV003228074
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.7582933_7587670delinsAGAACAGTCTT , CM000668.2:g.7582933_7587670delinsAGAACAGTCTT
GRCh38
NC_000006.11:g.7583166_7587903delinsAGAACAGTCTT , CM000668.1:g.7583166_7587903delinsAGAACAGTCTT
GRCh37
NC_000006.10:g.7528165_7532902delinsAGAACAGTCTT
NCBI36
NG_008803.1:g.46297_51034delinsAGAACAGTCTT , LRG_423:g.46297_51034delinsAGAACAGTCTT
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