ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3087691185
Gene: SCP2D1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848578.1:p.Pro99Ser
CA9778944
NM_178483.3:c.295C>T