ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691474
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54611
ClinVar RCV Id:
RCV000111898
RCV000132326
RCV001348685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser817Leu
CA001704
NM_007297.4:c.2450C>T