Canonical Allele Identifier: PA2580444041
Gene: NEFH HGNC NCBI
ClinVar RCV:
RCV002621377
ClinVar Variation:
1921568
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066554.2:p.Gly83Arg
CA323082814
NM_021076.4:c.247G>C
CA411122183
NM_021076.4:c.247G>A