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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:
CA260540394
Gene:
Linked Data
dbSNP Id:
rs750476112
MyVariant Identifiers:
chr14:g.55306658del (hg19)
chr14:g.54839940del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54839940del , CM000676.2:g.54839940del
GRCh38
NC_000014.8:g.55306658del , CM000676.1:g.55306658del
GRCh37
NC_000014.7:g.54376408del
NCBI36
Search 100 bp 5'
Search 100 bp 3'