ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499276089
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_009228.2:p.Val75Ile
CA10601416
NM_007297.4:c.223G>A