ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692664
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54862
ClinVar RCV Id:
RCV000112083
RCV000166384
RCV000485450
RCV001350122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro1079Leu
CA002188
NM_007297.4:c.3236C>T