ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689683
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185060
ClinVar RCV Id:
RCV000164418
RCV000548977
RCV001797648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro521Ser
CA001115
NM_007297.4:c.1561C>T