ClinGen Allele Registry
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Canonical Allele Identifier:
PA658802540
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
529196
ClinVar RCV:
RCV000628681
RCV001015940
RCV003478339
ClinVar Variation:
524813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Ser854Asn
CA7738822
NM_000057.4:c.2561G>A