ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829687646
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252891
ClinVar RCV Id:
RCV000239233
RCV000637581
RCV000758850
RCV002429180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr229Lys
CA10586119
NM_007297.4:c.686C>A