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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:
CA238134504
Gene:
Linked Data
dbSNP Id:
rs772453547
gnomAD v2:
12-62818327-CA-C
gnomAD v3:
12-62424547-CA-C
gnomAD v4:
12-62424547-CA-C
MyVariant Identifiers:
chr12:g.62818328del (hg19)
chr12:g.62424548del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.62424554del , CM000674.2:g.62424554del
GRCh38
NC_000012.11:g.62818334del , CM000674.1:g.62818334del
GRCh37
NC_000012.10:g.61104601del
NCBI36
Search 100 bp 5'
Search 100 bp 3'