ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829717741
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418067
ClinVar RCV Id:
RCV000479511
RCV001851130
RCV002329137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser140Asn
CA10601309
NM_007300.4:c.419G>A