ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826454830
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1804294
ClinVar RCV Id:
RCV002469595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245137.1:p.Leu245Arg
CA6314250
NM_001258208.2:c.734T>G