ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191596
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55254
ClinVar RCV Id:
RCV000112375
RCV000164710
RCV000212184
RCV001364498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1553Met
CA002952
NM_007294.4:c.4657T>A