ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450475
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409344
ClinVar RCV Id:
RCV000475050
RCV000775766
RCV003238761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1245Asn
CA10594499
NM_007294.4:c.3734G>A