×
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:
CA2794418702
Gene: TAPBPL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6471489T>C , CM000674.2:g.6471489T>C
GRCh38
NC_000012.11:g.6580655T>C , CM000674.1:g.6580655T>C
GRCh37
NC_000012.10:g.6450916T>C
NCBI36
NG_042188.1:g.4411A>G
NG_042188.2:g.4411A>G
Transcript Alleles
HGVS
Amino-acid Change
XR_001748777.2:n.2756T>C
XR_001748778.2:n.2753T>C
Search 100 bp 5'
Search 100 bp 3'