ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125220
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15380
ClinVar RCV Id:
RCV000016632
RCV000641615
RCV000759072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Pro125Gln
CA125219
NM_000518.5:c.374C>A