ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139694982
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
969556
ClinVar RCV Id:
RCV001244932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Pro703Leu
CA349840366
NM_000090.4:c.2108C>T