ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826454898
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1455
ClinVar RCV Id:
RCV000001520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245138.1:p.Gln17Lys
CA251811
NM_001258209.2:c.49C>A