ClinGen Allele Registry
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Canonical Allele Identifier:
PA645487993
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400996
ClinVar RCV:
RCV000475513
RCV000708668
ClinVar Variation:
405312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Arg1139Pro
CA7739029
NM_000057.4:c.3416G>C