ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580181755
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2128292
ClinVar RCV Id:
RCV003057512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245137.1:p.Ala9Thr
CA382985795
NM_001258208.2:c.25G>A