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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:
CA239221828
Gene:
Linked Data
dbSNP Id:
rs999529578
gnomAD v2:
12-72331977-TA-T
gnomAD v3:
12-71938197-TA-T
gnomAD v4:
12-71938197-TA-T
MyVariant Identifiers:
chr12:g.72331978del (hg19)
chr12:g.71938198del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938205del , CM000674.2:g.71938205del
GRCh38
NC_000012.11:g.72331985del , CM000674.1:g.72331985del
GRCh37
NC_000012.10:g.70618252del
NCBI36
NG_008279.1:g.4360del
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