ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000439
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55057
ClinVar RCV Id:
RCV000112215
RCV003644884
RCV003157381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro1315His
CA002529
NM_007300.4:c.3944C>A