ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691163
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232813
ClinVar RCV Id:
RCV000217281
RCV000462014
RCV000616046
RCV001701879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro751Leu
CA10580618
NM_007297.4:c.2252C>T