ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA164079
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54855
ClinVar RCV Id:
RCV000048162
RCV000112078
RCV000129260
RCV000235634
ClinVar Variation Id:
216662
ClinVar RCV Id:
RCV000198369
RCV000656462
RCV001020072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1119Ser
CA002176
NM_007294.4:c.3355A>T
CA337866
NM_007294.4:c.3356C>G