ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829717674
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55012
ClinVar RCV Id:
RCV000048339
RCV000112413
RCV000131802
RCV000478246
RCV001526936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser127Asn
CA002455
NM_007300.4:c.380G>A