ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124672
Gene: HBD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15062
ClinVar RCV Id:
RCV000016212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000510.1:p.Leu142Pro
CA124671
NM_000519.4:c.425T>C