ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825097970
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1549134
ClinVar RCV Id:
RCV002180348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Ala11Thr
CA6313833
NM_000190.4:c.31G>A