ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826741155
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400980
ClinVar RCV:
RCV000477499
RCV002451078
RCV003151059
RCV003441864
ClinVar Variation:
405315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Tyr436Cys
CA7738775
NM_001287248.2:c.1307A>G