ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825333174
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2735770
ClinVar RCV Id:
RCV003557676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019553.1:p.Val198Met
CA382896822
NM_001024382.2:c.592G>A