ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689121
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000221725
RCV003530008
ClinVar Variation:
229818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gln444Pro
CA10580664
NM_007297.4:c.1331A>C