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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
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Canonical Allele Identifier:
CA2511737113
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.28544555_28544556insCTTCTAA , CM000681.2:g.28544555_28544556insCTTCTAA
GRCh38
NC_000019.9:g.29035462_29035463insCTTCTAA , CM000681.1:g.29035462_29035463insCTTCTAA
GRCh37
NC_000019.8:g.33727302_33727303insCTTCTAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110759.1:n.657-77776_657-77775insTTAGAAG
XR_243979.1:n.110-51533_110-51532insTTAGAAG
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