ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829694473
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55162
ClinVar RCV Id:
RCV000112308
RCV000590640
RCV002326773
RCV003644887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro1383Ser
CA002750
NM_007297.4:c.4147C>T