ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829707690
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112436
RCV000223580
RCV000709466
RCV001528321
RCV003162417
ClinVar Variation:
55333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1676Phe
CA003111
NM_007300.4:c.5027C>T