ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688827
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54203
ClinVar RCV Id:
RCV000111589
RCV000129529
RCV000347705
RCV000709488
RCV001192442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu398Gln
CA000868
NM_007297.4:c.1192G>C