ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125463
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000016836
RCV000759073
RCV001000143
ClinVar Variation:
15569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Pro125Leu
CA125462
NM_000518.5:c.374C>T