ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826736776
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454060
ClinVar RCV Id:
RCV000556843
RCV001017026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.Ser343Ala
CA7738411
NM_001287246.2:c.1027T>G