ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267480
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048383
RCV000083201
RCV000501619
RCV000569349
RCV000589731
RCV003492386
RCV003992170
ClinVar Variation:
55053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1310Lys
CA002524
NM_007294.4:c.3929C>A