ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157408
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133705
ClinVar RCV Id:
RCV000120234
RCV000806844
RCV004019670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Ser1368Pro
CA157406
NM_000057.4:c.4102T>C