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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:
CA1800980071
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981328_88981329delinsTA , CM000670.2:g.88981328_88981329delinsTA
GRCh38
NC_000008.10:g.89993557_89993558delinsTA , CM000670.1:g.89993557_89993558delinsTA
GRCh37
NC_000008.9:g.90062673_90062674delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99268_179-99267delinsTA
Search 100 bp 5'
Search 100 bp 3'