ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826454854
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1489767
ClinVar RCV Id:
RCV001983429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245137.1:p.Val276Ala
CA6314289
NM_001258208.2:c.827T>C