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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:
CA633931041
Gene:
Linked Data
dbSNP Id:
rs1204997349
gnomAD v2:
19-56265700-AG-A
MyVariant Identifiers:
chr19:g.56265701del (hg19)
chr19:g.55754335del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.55754335del , CM000681.2:g.55754335del
GRCh38
NC_000019.9:g.56265701del , CM000681.1:g.56265701del
GRCh37
NC_000019.8:g.60957513del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_936081.1:n.204del
XR_936081.2:n.263del
Search 100 bp 5'
Search 100 bp 3'