ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708504
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000031218
RCV001023567
RCV001058708
ClinVar Variation:
37637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu1726Pro
CA003248
NM_007300.4:c.5177T>C