ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692271
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112008
RCV000129517
RCV000588811
RCV000709476
ClinVar Variation:
54776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gly1001Asp
CA002048
NM_007297.4:c.3002G>A