ClinGen Allele Registry
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Canonical Allele Identifier:
PA915993058
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131975
RCV000199725
RCV000411768
RCV000486159
RCV000781008
ClinVar Variation:
142639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Val350Ala
CA002800
NM_007299.4:c.1049T>C