ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124923
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016390
RCV000985737
ClinVar Variation:
15206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Lys67Glu
CA124922
NM_000518.5:c.199A>G