ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692750
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000077548
RCV000221866
RCV000590692
RCV000765364
RCV001296484
ClinVar Variation:
54878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala1095Pro
CA002215
NM_007297.4:c.3283G>C