ClinGen Allele Registry
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Canonical Allele Identifier:
PA192692
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000083207
RCV000165183
RCV000414754
RCV000420110
RCV000587513
RCV001084944
ClinVar Variation:
55174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1448Gly
CA002776
NM_007294.4:c.4342A>G