ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487867
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236822
ClinVar RCV Id:
RCV000231372
RCV001022623
RCV001818556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Ile151Val
CA7738293
NM_000057.4:c.451A>G