ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829708249
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55365
ClinVar RCV Id:
RCV000112476
RCV001853017
RCV002336188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1706Ile
CA003175
NM_007300.4:c.5117C>T