ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916015644
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524755
ClinVar RCV Id:
RCV000628614
RCV002448923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Asn82Ser
CA393839943
NM_001287247.2:c.245A>G