ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992430
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ser692Leu
CA10590699
NM_007298.3:c.2075C>T