ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829709197
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000520251
RCV000614231
RCV001378028
ClinVar Variation:
55466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp1760Val
CA003368
NM_007300.4:c.5279A>T