ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691378
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser797Asn
CA10596937
NM_007297.4:c.2390G>A