ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829711419
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55614
ClinVar RCV Id:
RCV000112695
RCV000570342
RCV000781015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala1864Pro
CA003697
NM_007300.4:c.5590G>C