ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000190
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55011
ClinVar RCV Id:
RCV000112190
RCV003644883
RCV003157376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asn1268Ser
CA002449
NM_007300.4:c.3803A>G