ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829707239
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55309
ClinVar RCV Id:
RCV000112418
RCV000563405
RCV001254344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1652Asn
CA003067
NM_007300.4:c.4955G>A