ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573164353
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1439664
ClinVar RCV Id:
RCV001965358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Ile231Val
CA382897447
NM_000190.4:c.691A>G