ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573091737
Gene: SPECC1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056145.5:p.Arg467Cys
CA10152111
NM_015330.6:c.1399C>T