ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169352
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54274
ClinVar RCV Id:
RCV000047502
RCV000111633
RCV000132145
RCV000195388
RCV000780972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys503Arg
CA001011
NM_007294.4:c.1508A>G