ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672947
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409474
ClinVar RCV Id:
RCV000571433
RCV000470166
RCV000989021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Leu1051Ser
CA6940671
NM_000059.4:c.3152T>C