ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829705392
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55144
ClinVar RCV Id:
RCV000112300
RCV001326890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu1407Pro
CA002718
NM_007300.4:c.4220T>C