ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825333029
Gene: HMBS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000824246
ClinVar Variation:
665873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019553.1:p.Arg9Leu
CA382888156
NM_001024382.2:c.26G>T