ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580311623
Gene: DSP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2418079
ClinVar RCV Id:
RCV003118188
RCV004009574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004406.2:p.Leu1991Ser
CA046258
NM_004415.4:c.5972T>C