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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:
CA944247972
Gene:
Linked Data
dbSNP Id:
rs1862788854
gnomAD v3:
12-5047221-CA-C
gnomAD v4:
12-5047221-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.5047222del , CM000674.2:g.5047222del
GRCh38
NC_000012.11:g.5156388del , CM000674.1:g.5156388del
GRCh37
NC_000012.10:g.5026649del
NCBI36
NG_012198.1:g.8304del
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