ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689927
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1999229
ClinVar RCV Id:
RCV002815254
RCV003157247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn552Asp
CA10598431
NM_007297.4:c.1654A>G