ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829707569
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37637
ClinVar RCV Id:
RCV000031218
RCV001058708
RCV001023567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Leu601Pro
CA003248
NM_007298.3:c.1802T>C