ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573161379
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1447849
ClinVar RCV Id:
RCV002011999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Pro1187Ser
CA349846636
NM_000090.4:c.3559C>T