ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829694258
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000031154
RCV000164912
RCV000236566
RCV000530171
RCV003226170
ClinVar Variation:
37573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1347Ile
CA002673
NM_007297.4:c.4040C>T