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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:
CA136866012
Gene:
Linked Data
ClinVar Variation Id:
12387
ClinVar RCV Id:
RCV000013188
dbSNP Id:
rs1800750
gnomAD v2:
6-31542963-G-A
gnomAD v3:
6-31575186-G-A
gnomAD v4:
6-31575186-G-A
MyVariant Identifiers:
chr6:g.31542963G>A (hg19)
chr6:g.31575186G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31575186G>A , CM000668.2:g.31575186G>A
GRCh38
NC_000006.11:g.31542963G>A , CM000668.1:g.31542963G>A
GRCh37
NC_000006.10:g.31650942G>A
NCBI36
NG_007462.1:g.4614G>A
NG_012010.1:g.8088G>A
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