ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692288
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91605
ClinVar RCV Id:
RCV000077122
RCV000775163
RCV000792199
RCV001280615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1004Ala
CA002053
NM_007297.4:c.3010A>G