ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573170119
Gene: HBA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002227314
RCV003388105
ClinVar Variation:
1679435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000508.1:p.Glu117Lys
CA276415405
NM_000517.6:c.349G>A