ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690176
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182137
ClinVar RCV Id:
RCV000159959
RCV002516425
RCV003157419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro587Leu
CA001244
NM_007297.4:c.1760C>T