ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829687850
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000233964
RCV000486097
RCV001188181
ClinVar Variation:
240831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys254Arg
CA10583585
NM_007297.4:c.761A>G