ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251803
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1449
ClinVar RCV Id:
RCV000001514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019553.1:p.Arg132Gln
CA251802
NM_001024382.2:c.395G>A