ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829706188
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55203
ClinVar RCV Id:
RCV000048563
RCV000077573
RCV000167166
RCV000780980
RCV002477173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Thr381Ile
CA002857
NM_007298.3:c.1142C>T