ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697628
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000031237
RCV000048915
RCV000218342
RCV001284552
ClinVar Variation:
37656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile1719Ser
CA003452
NM_007297.4:c.5156T>G