×
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:
CA2539982524
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.2791269dup , CM000686.2:g.2791269dup
GRCh38
NC_000024.9:g.2659310dup , CM000686.1:g.2659310dup
GRCh37
NC_000024.8:g.2719310dup
NCBI36
NG_011751.1:g.1484dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000679518.1:n.106+16530dup
ENST00000681787.1:n.106+16530dup
ENST00000681940.1:n.106+16530dup
Search 100 bp 5'
Search 100 bp 3'