×
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:
CA2509900860
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.52417653_52417680del , CM000676.2:g.52417653_52417680del
GRCh38
NC_000014.8:g.52884371_52884398del , CM000676.1:g.52884371_52884398del
GRCh37
NC_000014.7:g.51954121_51954148del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943866.1:n.3023_3050del
Search 100 bp 5'
Search 100 bp 3'