ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139711672
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009229.2:p.Val700Leu
NM_007298.3:c.2098G>C