ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992162
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185304
ClinVar RCV Id:
RCV000164701
RCV000409623
RCV000470286
RCV001800487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr975Ile
CA002011
NM_007297.4:c.2924C>T