ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829711072
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409329
ClinVar RCV Id:
RCV000463014
RCV001076309
RCV002348317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Cys1849Gly
CA10590349
NM_007300.4:c.5545T>G