ClinGen Allele Registry
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Canonical Allele Identifier:
PA190863
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
69620
ClinVar RCV:
RCV000048271
RCV000112145
RCV000164401
RCV000758816
RCV000765362
RCV001194349
RCV001354959
RCV002250537
ClinVar Variation:
54953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1217Pro
CA002337
NM_007294.4:c.3649T>C