ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829687399
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55679
ClinVar RCV Id:
RCV000112776
RCV000165175
RCV000586774
RCV002054877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro194Leu
CA003835
NM_007297.4:c.581C>T