ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693039
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142258
ClinVar RCV Id:
RCV000131273
RCV000199465
RCV001194453
RCV003998096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.His1148Arg
CA002285
NM_007297.4:c.3443A>G