Canonical Allele Identifier: PA124825
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15152
ClinVar RCV Id: RCV000016317 RCV000029994 RCV000202465 RCV000723826 RCV000778329 RCV001175348 RCV002247348
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000509.1:p.Glu122Gln
CA037744
NM_000518.5:c.[364G>C;79G>A]
CA037750
NM_000518.5:c.[364G>C;280T>C]
CA037933
NM_000518.5:c.[364G>C;29C>A]
CA124824
NM_000518.5:c.364G>C