ClinGen Allele Registry
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Canonical Allele Identifier:
PA658826857
Gene: HMBS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
503169
ClinVar RCV:
RCV000605528
RCV001102686
RCV001860291
ClinVar Variation:
510995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Ala9Glu
CA6313828
NM_000190.4:c.26C>A