ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169319
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112368
RCV000132132
RCV000479934
RCV000780989
RCV001434885
ClinVar Variation:
55244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1544Leu
CA002935
NM_007294.4:c.4631C>T