ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251816
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1457
ClinVar RCV Id:
RCV000001522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019553.1:p.Arg150Leu
CA251815
NM_001024382.2:c.449G>T