ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197357
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1736466
ClinVar RCV Id:
RCV003102486
RCV002357634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Ile944Val
CA393850863
NM_001287248.2:c.2830A>G