ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697187
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000077607
RCV000132266
RCV000235134
RCV000985247
RCV001305771
ClinVar Variation:
55447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn1683Ser
CA003331
NM_007297.4:c.5048A>G