ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829691068
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000031044
RCV000213379
RCV000418137
RCV000476108
RCV001284388
ClinVar Variation:
37463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Tyr730Asp
CA001554
NM_007297.4:c.2188T>G