ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579790106
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1199035
ClinVar RCV Id:
RCV001563393
RCV002343740
RCV003530198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val122Ile
CA10601416
NM_007294.4:c.364G>A