ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741821215
Gene: HBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003332004
ClinVar Variation:
2581599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000549.1:p.Asp48His
CA276416736
NM_000558.5:c.142G>C