ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193416
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000083032
RCV000165441
RCV000203770
ClinVar Variation:
96911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1136Thr
CA002201
NM_007294.4:c.3406C>A