ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829704907
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182122
ClinVar RCV Id:
RCV000159934
RCV001036738
RCV001077106
RCV002267892
RCV000571136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Pro58Thr
CA001135
NM_007298.3:c.172C>A