ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697000
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55414
ClinVar RCV Id:
RCV000112505
RCV001383430
RCV002267824
ClinVar Variation Id:
55417
ClinVar RCV Id:
RCV000112508
ClinVar Variation Id:
55418
ClinVar RCV Id:
RCV000112509
RCV002336193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1668Arg
CA003264
NM_007297.4:c.5002A>C
CA003267
NM_007297.4:c.5004C>A
CA003268
NM_007297.4:c.5004C>G