ClinGen Allele Registry
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Canonical Allele Identifier:
PA915997827
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111830
RCV001341133
RCV001553706
RCV002444511
ClinVar Variation:
54542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser784Ala
CA001567
NM_007300.4:c.2350T>G