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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:
CA1502607277
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148748380_148748381delinsAT , CM000666.2:g.148748380_148748381delinsAT
GRCh38
NC_000004.11:g.149669532_149669533delinsAT , CM000666.1:g.149669532_149669533delinsAT
GRCh37
NC_000004.10:g.149888982_149888983delinsAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741441.1:n.1746-118377_1746-118376delinsAT
Search 100 bp 5'
Search 100 bp 3'