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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:
CA2330336239
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.28544579_28544580delinsTG , CM000681.2:g.28544579_28544580delinsTG
GRCh38
NC_000019.9:g.29035486_29035487delinsTG , CM000681.1:g.29035486_29035487delinsTG
GRCh37
NC_000019.8:g.33727326_33727327delinsTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110759.1:n.657-77800_657-77799delinsCA
XR_243979.1:n.110-51557_110-51556delinsCA
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