ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997193
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54391
ClinVar RCV Id:
RCV000111728
RCV001187831
RCV001857388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro634Ser
CA001241
NM_007300.4:c.1900C>T