ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103458
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161252
ClinVar RCV Id:
RCV000148510
RCV001514054
RCV003927449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Glu86Val
CA272879
NM_000190.4:c.257A>T