ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341342
Gene: HADHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14847
ClinVar RCV Id:
RCV003156217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268442.1:p.Arg422Lys
CA341341
NM_001281513.2:c.1265G>A