ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826738200
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236810
ClinVar RCV Id:
RCV000228961
RCV000563912
RCV001538791
RCV001804962
RCV003907844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.His1014Arg
CA7738930
NM_001287246.2:c.3041A>G