ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191300
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185202
ClinVar RCV Id:
RCV000164572
RCV000757034
RCV000696194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1322Thr
CA002538
NM_007294.4:c.3965A>C