ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124917
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15203
ClinVar RCV Id:
RCV000016387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Glu44Gln
CA124916
NM_000518.5:c.130G>C