ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999778
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54917
ClinVar RCV Id:
RCV000048233
RCV000112118
RCV000217356
RCV000586582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1187Asn
CA002275
NM_007300.4:c.3560G>A