ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829678440
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1411075
ClinVar RCV Id:
RCV001920444
RCV002386713
RCV003478897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp458Asn
CA10599302
NM_007294.4:c.1372G>A