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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:
CA124924652
Gene:
Linked Data
ClinVar Variation Id:
650379
ClinVar RCV Id:
RCV003653359
dbSNP Id:
rs532048458
gnomAD v4:
5-112707431-T-A
MyVariant Identifiers:
chr5:g.112043128T>A (hg19)
chr5:g.112707431T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.112707431T>A , CM000667.2:g.112707431T>A
GRCh38
NC_000005.9:g.112043128T>A , CM000667.1:g.112043128T>A
GRCh37
NC_000005.8:g.112071027T>A
NCBI36
NG_008481.4:g.19911T>A , LRG_130:g.19911T>A
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