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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:
CA690776363
Gene:
Linked Data
dbSNP Id:
rs1489173068
gnomAD v3:
12-63136488-GA-G
gnomAD v4:
12-63136488-GA-G
MyVariant Identifiers:
chr12:g.63530269del (hg19)
chr12:g.63136489del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.63136490del , CM000674.2:g.63136490del
GRCh38
NC_000012.11:g.63530270del , CM000674.1:g.63530270del
GRCh37
NC_000012.10:g.61816537del
NCBI36
Search 100 bp 5'
Search 100 bp 3'