×
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:
PA2580318952
Gene: ABCB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2062898
ClinVar RCV Id:
RCV002958092
RCV002958093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005680.1:p.Glu809Lys
CA2118885
NM_005689.4:c.2425G>A