ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830163247
Gene: COL13A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1516685
ClinVar RCV Id:
RCV002040902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542995.3:p.Pro344Ser
CA5534634
NM_080805.4:c.1030C>T