ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829691285
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54575
ClinVar RCV Id:
RCV000083184
RCV000132467
RCV000435802
RCV000586521
RCV001081263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp778Tyr
CA001643
NM_007297.4:c.2332G>T