ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267710
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54104
ClinVar RCV Id:
RCV000111530
RCV000581734
RCV000985363
RCV001327254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala344Thr
CA000694
NM_007294.4:c.1030G>A