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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:
CA2491383577
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458129_16458130delinsCT , CM000664.2:g.16458129_16458130delinsCT
GRCh38
NC_000002.11:g.16639397_16639398delinsCT , CM000664.1:g.16639397_16639398delinsCT
GRCh37
NC_000002.10:g.16502878_16502879delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939752.1:n.396-3036_396-3035delinsAG
Search 100 bp 5'
Search 100 bp 3'