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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:
CA2510217122
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148748366_148748367insT , CM000666.2:g.148748366_148748367insT
GRCh38
NC_000004.11:g.149669518_149669519insT , CM000666.1:g.149669518_149669519insT
GRCh37
NC_000004.10:g.149888968_149888969insT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001741441.1:n.1746-118391_1746-118390insT
Search 100 bp 5'
Search 100 bp 3'