ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103665
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137262
ClinVar RCV Id:
RCV003062462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Leu42Ser
CA382888459
NM_000190.4:c.125T>C