ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691521
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser826Leu
CA10596758
NM_007297.4:c.2477C>T