ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139695150
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843197
ClinVar RCV Id:
RCV001045759
RCV001524510
RCV002464360
RCV002479281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Pro893Leu
CA349843732
NM_000090.4:c.2678C>T