×
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:
PA125006
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15253
ClinVar RCV Id:
RCV000016461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Lys18_Val19del
CA125005
NM_000518.5:c.54_59del