ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323998
Gene: COL5A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000084.3:p.Arg65Trp
CA323997
NM_000093.5:c.193C>T