ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708874
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462662
ClinVar RCV Id:
RCV000536072
RCV001072422
RCV001724041
RCV002341301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile1744Val
CA10591212
NM_007300.4:c.5230A>G