ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826736744
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3017297
ClinVar RCV Id:
RCV003871416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.Arg330Gly
CA393842038
NM_001287246.2:c.988A>G