ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124994
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016450
RCV001004559
RCV001284158
RCV001804165
ClinVar Variation:
15245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Ala130Val
CA124993
NM_000518.5:c.389C>T