ClinGen Allele Registry
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Canonical Allele Identifier:
PA287129
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132965
ClinVar RCV:
RCV000115316
RCV000465705
RCV000566329
ClinVar Variation:
127508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Ala135Ser
CA287127
NM_000057.4:c.403G>T