ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA125123
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000016563
RCV000781459
RCV001811163
RCV001831571
ClinVar Variation:
15323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Val2Ala
CA125122
NM_000518.5:c.5T>C