ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690175
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111728
RCV001187831
RCV001857388
ClinVar Variation:
54391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro587Ser
CA001241
NM_007297.4:c.1759C>T