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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:
CA276904856
Gene:
Linked Data
ClinVar Variation Id:
1169385
ClinVar RCV Id:
RCV001520545
RCV001555005
dbSNP Id:
rs533772017
gnomAD v2:
16-3306969-G-A
gnomAD v3:
16-3256969-G-A
gnomAD v4:
16-3256969-G-A
MyVariant Identifiers:
chr16:g.3306969G>A (hg19)
chr16:g.3256969G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.3256969G>A , CM000678.2:g.3256969G>A
GRCh38
NC_000016.9:g.3306969G>A , CM000678.1:g.3306969G>A
GRCh37
NC_000016.8:g.3246970G>A
NCBI36
NG_007871.1:g.4659C>T , LRG_190:g.4659C>T
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