ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697438
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112581
RCV000563666
RCV001326888
RCV003321495
ClinVar Variation:
55483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala1705Pro
CA003394
NM_007297.4:c.5113G>C