ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829678858
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444310
ClinVar RCV Id:
RCV001955872
RCV002282663
RCV002397990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro586Leu
CA10598513
NM_007294.4:c.1757C>T