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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:
CA725881014
Gene:
Linked Data
dbSNP Id:
rs1189664171
gnomAD v3:
16-9581321-G-A
gnomAD v4:
16-9581321-G-A
MyVariant Identifiers:
chr16:g.9675178G>A (hg19)
chr16:g.9581321G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9581321G>A , CM000678.2:g.9581321G>A
GRCh38
NC_000016.9:g.9675178G>A , CM000678.1:g.9675178G>A
GRCh37
NC_000016.8:g.9582679G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_429665.2:n.1065+14731G>A
XR_001752073.1:n.1766+14731G>A
XR_001752074.1:n.650+14731G>A
XR_001752075.1:n.740+14731G>A
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