ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124729
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000016252
RCV000756230
RCV002265556
ClinVar Variation:
15099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Arg41Lys
CA124728
NM_000518.5:c.122G>A