×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2746652159
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.172658433_172658443del , CM000663.2:g.172658433_172658443del
GRCh38
NC_000001.10:g.172627573_172627583del , CM000663.1:g.172627573_172627583del
GRCh37
NC_000001.9:g.170894196_170894206del
NCBI36
NG_007269.1:g.4389_4399del , LRG_58:g.4389_4399del
Search 100 bp 5'
Search 100 bp 3'