ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825097961
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003057512
ClinVar Variation:
2128292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Ala9Thr
CA382985795
NM_000190.4:c.25G>A