ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691385
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54593
ClinVar RCV Id:
RCV000410162
RCV000561022
RCV001360641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile798Thr
CA001676
NM_007297.4:c.2393T>C