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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:
CA744624624
Gene:
Linked Data
dbSNP Id:
rs1417873283
gnomAD v3:
20-43665880-G-GTTCCC
gnomAD v4:
20-43665880-G-GTTCCC
MyVariant Identifiers:
chr20:g.42294520_42294521insTTCCC (hg19)
chr20:g.43665880_43665881insTTCCC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.43665884_43665885insCTTCC , CM000682.2:g.43665884_43665885insCTTCC
GRCh38
NC_000020.10:g.42294524_42294525insCTTCC , CM000682.1:g.42294524_42294525insCTTCC
GRCh37
NC_000020.9:g.41727938_41727939insCTTCC
NCBI36
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