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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:
CA2491383575
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458128_16458134delinsACTTTTT , CM000664.2:g.16458128_16458134delinsACTTTTT
GRCh38
NC_000002.11:g.16639396_16639402delinsACTTTTT , CM000664.1:g.16639396_16639402delinsACTTTTT
GRCh37
NC_000002.10:g.16502877_16502883delinsACTTTTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3040_396-3034delinsAAAAAGT
Search 100 bp 5'
Search 100 bp 3'