ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826737603
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
646436
ClinVar RCV Id:
RCV000800717
RCV003344057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.Thr738Ala
CA393844800
NM_001287246.2:c.2212A>G