ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708319
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55383
ClinVar RCV Id:
RCV000048776
RCV000238743
RCV000486285
RCV000510122
RCV000766432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp1713Val
CA003216
NM_007300.4:c.5138A>T