ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826739900
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236812
ClinVar RCV Id:
RCV000228367
RCV001019350
RCV003237782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Asp1080Asn
CA7738972
NM_001287247.2:c.3238G>A