ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268381
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55507
ClinVar RCV Id:
RCV000048910
RCV000112603
RCV000212199
RCV000508603
RCV001023867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1763Val
CA003445
NM_007294.4:c.5288G>T