ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829686779
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54635
ClinVar RCV Id:
RCV000112168
RCV000220067
RCV001417915
RCV002250533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile42Thr
CA001747
NM_007297.4:c.125T>C