ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124813
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000016309
RCV001823097
ClinVar Variation:
15146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Ala130Pro
CA124812
NM_000518.5:c.388G>C